ArticleCureus2019
Atypical Presentation of Viral Gastroenteritis in a Three-year-old Child Due to a UNC80 Mutation.
Article in Cureus, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Article
- Sodium Leak Channel in Glutamatergic Neurons of the Lateral Parabrachial Nucleus Modulates Inflammatory Pain in Mice.International journal of molecular sciences · 2023Article
- Identification of Genetic Susceptibility Factors Associated with Canine Gastric Dilatation-Volvulus.Genes · 2020Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a three-year-old child with a rare genetic phenomenon, a UNC80 mutation, who had an unusual presentation of viral gastroenteritis. The UNC80 gene encodes for an important voltage-independent channel in neurons and a mutation in this protein can lead to severe hypotonia. The hypotonia manifests as delayed gastric emptying, impaired respiratory clearance, and/or delayed muscle coordination, which can predispose to infection susceptibility. UNC80 gene mutations have also been shown to cause global developmental delays, failure to thrive, and phenotypic dysmorphisms. In our patient, we believe that his genetic defect precipitated a complicated hospital course. The patient's delayed gastric emptying caused difficulty in recovering from viral gastroenteritis while a concurrent pneumonia diagnosis required assistance in clearing respiratory contents. The UNC80 mutation is under-studied, and more studies are necessary to understand the clinical implications of its phenotypes.
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